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Targeted Familial Variant Analysis

Order Code: 4970

Also Known as

ACTN1, ADAMTS13, ANKRD26, ANO6, AP3B1, BLOC1S3, BLOC1S6, C16ORF57, C3, C4BPA, C4BPB, CFB, CFH, CFHR1, CFHR3, CFHR5, CFI, CSF3R, CXCR4, CYCS, DGKE, DTNBP1, ELANE, ETV6, F10, F11, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, G6PC3, GATA1, GATA2, GFI1, GFI1B, GGCX, GP1BA, GP1BB, GP6, GP9, HAX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, ITGA2B, ITGB3, JAGN1, KNG1, LAMTOR2, LMAN1, LMNA, LYST, MCFD2, MPL, MYH9, NBEAL2, P2RY12, PLA2G4A, PLAT, PRKACG, PROC, PROS1, RAB24A, RAC2, RASGRP2, RBM8A, RUNX1, SBDS, SERPINA1, SERPINC1, SERPINE1, SERPINF2, SLC37A4, STIM1, STXBP2, TAZ, TBXA2R, TCIRG1, THBD, TUBB1, USB1, VIPAS39, VKORC1, VPS13B, VPS33B, VPS45, VWF, WAS, WIPF1

Test Information

Targeted genetic analysis is used to determine if a specific familial variant is present. Testing is only available for genes tested by Versiti Wisconsin, Inc. Please provide a copy of the affected relative's lab report for the variant being tested.

Sample Requirements

Amniotic Fluid, Buccal Swabs, Cultured Amniocytes, CVS, DNA, EDTA Bone Marrow, EDTA Whole Blood

Additional Sample Requirements

If original testing was not performed by Versiti Wisconsin, Inc. it is recommended that sample from an affected relative be provided as a positive control along with the patient sample. The control confirms the targeted variant and is not reported.

Shipping Information

Room Temperature

Requested Volume

2-5 mL EDTA Whole Blood or Bone Marrow (lavendar top), 3-4 Buccal Swabs, 1 ug DNA at 50 ng/ul, 7-15 mL Amniotic Fluid, 5-10 mg CVS, 2-T25 flasks Cultured Amniocytes or CVS (2x10^6 minimum)

CPT Codes

81403 for known familial variant not otherwise specified (for each variant exon)

Method

Refer to specific gene

Turnaround Time

21 days, unless otherwise specified

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